Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review

Abstract

AbstractBackgroundKohlschüttereTönz syndrome (KTS), also called amelo‐cerebro‐hypohidrotic syndrome, is a very rare genetic condition, described for the first time by Kohlschutter, which typically manifests as a triad of symptoms:  amelogenesis imperfecta, infantile onset epilepsy, and intellectual disability. 47 cases were reported in English language literature since 1974–2021.Case reportA 7‐year‐old girl was referred for dental evaluation. Oral examination revealed yellowish color of all the teeth due to enamel hypoplasia. The radiographic exam revealed a thin layer of enamel with decreased radiopacity of the enamel compared to that of dentin. The diagnosis of amelogenesis Imperfecta was established. In addition to that, the child's parents reported that she had spasticity, epileptic seizures and psychomotor developmental delay. The association of all these features leads us to conclude to KTS.ConclusionIt seems that numerous cases of KTS are still undiagnosed in the world, so this paper highlights the common clinical features of Kohlschütter‐Tönz Syndrome helping to an early diagnosis and more research about this condition.